Grounded on the review of the policies and outcomes of health resources allocation in China,the authors analyzed the allocation of health resources and its equity and efficiency,the comparison of and comment on domestic and foreign literatures.Based on such studies,they presented a strategic framework concerning optimal allocation of health resources in China with synergy of equity and efficiency,and developed an index system and an assessment system,as well as their optimal models and ways.

Objective To explore the clinical efficacy of modified single-portlaparoscopic radical prostatec-tomy(LRP) by atransperitoneal or extraperitoneal approach, and the impact of either approach on immune function in patients with prostate neoplasms. Methods The clinical data on 39 patients who had undergoneextraperitoneal LRP(group A) and 20 patients who had receivedtranperitoneal LRP (group B) in our department from January 2012 to December 2015 were retrospectivelyanalyzed. The prostate neoplasms were preoperatively diagnosed as cancer by ultrasound, CT or MRI, and pathological examinations. The clinical stage was T1-T2c , N0M0 in all patients.The efficacy was assessed by surgical duration, intraoperative blood loss, timeto intestinal function recovery, and post-operative hospital stay in both groups. The indicators for immune function including prostate specific antigen (TPSA and FPSA), immunoglobulin (IgG, IgA, lgM, C3, and C4) and T lymphocyte subsets (CD3+, CD4+, CD8+, CD4+/CD8+) in patientswith prostate neoplasms before and after surgery were detected. Results 59 patients were operat-ed successfully, without converting to open approach. The mean surgical duration, blood loss, time to intestinal function recovery, and postoperative hospital stay were (133.8 ± 68.6) min, (75.6 ± 51.3) mL, (2.2 ± 0.7) days, and (14.7 ± 3.6) days in group A, while (159.4 ± 78.1) min, (102.2 ± 70.8) mL, (2.9 ± 1.1) days, and (15.2 ± 4.1) days in group B. There were significant differences between the two groups (P<0.05). After surgery, levels of IgG, IgA, C3, C4, CD3+, CD4+and CD4+/CD8+were significantly higherin group Athan in group B (P < 0.05). There were no significant differences between the two groups in levels of TPSA, FPSA and lgM (P>0.05). Average postoperative follow-up was 15 months (range 3-36) in 36 patients. No recurrence or metastasis was found in all the patients by imaging studies,and no long-term complications were found. Conclusions Extraperitoneal LRP, as compared with tranperitoneal LRP, has clearer vision, fewer effects on abdominal organs, shorter surgical duration, less blood loss, faster postoperative recovery, and better protection of immune function. It is worth popularizing clin-ically.

OBJECTIVE: To explore the genetic etiology of a patient with epilepsy and provide genetic counseling. METHODS: A patient who had visited the Center for Reproductive Medicine of Shandong University on November 11, 2020 was selected as the study subject, and her clinic information was collected. Candidate variant was identified through whole exome sequencing (WES), and Sanger sequencing was used for validation. Possible transcriptional changes caused by the variant was detected by reverse transcription-PCR and Sanger sequencing. RESULTS: The patient was a 35-year-old female with no fever at the onset, loss of consciousness and abnormal firing in the temporal lobe, manifesting predominantly as convulsions and fainting. WES revealed that she had harbored a heterozygous c.2841+5G>A variant of the SCN9A gene, which was verified by Sanger sequencing. cDNA sequencing confirmed that 154 bases were inserted between exons 16 and 17 of the SCN9A gene, which probably produced a truncated protein and affected the normal function of the SCN9A protein. Based on the guidelines from the American College of Medical Genetics and Genomics, the c.2841+5G>A variant was classified as likely pathogenic (PVS1_Strong+PM2_Supporting). CONCLUSION The c.2841+5G>A variant of the SCN9A gene probably underlay the epilepsy in this patient. Above finding has enriched the variant spectrum of the SCN9A gene and provided a basis for the prenatal diagnosis and preimplantation genetic testing for this patient.
Humans ; Female ; Pregnancy ; Adult ; Epilepsy/genetics* ; Seizures ; Exons ; DNA, Complementary ; Genetic Counseling ; NAV1.7 Voltage-Gated Sodium Channel

OBJECTIVETo identify potential mutations of PKD1 gene in a family affected with autosomal dominant polycystic kidney disease (ADPKD).

METHODSThe coding regions of the PKD1 gene were subjected to PCR and Sanger sequencing. Reverse transcription-PCR (RT-PCR) was used to determine the relative mRNA expression in the patient.

RESULTSA splicing site mutation, c.8791+1_8791+5delGTGCG (IVS23+1_+5delGTGCG), was detected in the PKD1 gene in all 5 patients from the pedigree but not in 6 phenotypically normal relatives and 40 healthy controls. Sequencing of RNA has confirmed that there were 8 bases inserted in the 3' end of exon 23 of the PKD1 gene.

CONCLUSIONThe novel c.8791+1_8791+5delGTGCG mutation has created a new splice site and led to a frameshift, which probably underlies the ADPKD in the family. Above finding has enriched the mutation spectrum of the PKD1 gene.

Adult ; Female ; Humans ; Male ; Mutation ; genetics ; Pedigree ; Polycystic Kidney, Autosomal Dominant ; genetics ; RNA Splicing ; genetics ; TRPP Cation Channels ; genetics ; Young Adult

OBJECTIVETo identify potential mutation of PHEX gene in two patients from a family affected with X-linked hypophosphatemia (XLH).

METHODSPCR and Sanger sequencing were performed on blood samples from the patients and 100 healthy controls. Reverse transcription-PCR (RT-PCR) was used to determine the mRNA expression in patient samples.

RESULTSA splicing site mutation, IVS21+2T>G, was found in the PHEX gene in both patients but not among the 100 healthy controls. RT-PCR confirmed that exon 21 of the PHEX gene was deleted.

CONCLUSIONThe novel splicing mutation IVS21+2T>G of the PHEX gene probably underlies the XLH in this pedigree. At the mRNA level, the mutation has led to removal of exon 21 and shift of the open reading frame (p.Val691fsx), resulting in premature termination of protein translation.

Adult ; Base Sequence ; DNA Mutational Analysis ; Exons ; Familial Hypophosphatemic Rickets ; genetics ; Female ; Genetic Diseases, X-Linked ; genetics ; Humans ; Male ; Middle Aged ; Molecular Sequence Data ; Mutation ; PHEX Phosphate Regulating Neutral Endopeptidase ; genetics ; Pedigree ; RNA Splicing ; Young Adult

OBJECTIVETo detect the disease-causing mutation in a pedigree affected with autosomal dominant congenital cataract.

METHODSGenomic DNA was extracted and purified from peripheral blood samples from members of the pedigree and 100 healthy controls. Coding regions of 18 candidate genes were screened with PCR and Sanger sequencing. Identified mutations were verified among 100 healthy individuals to exclude single nucleotide polymorphisms.

RESULTSA heterozygous nonsense mutation c.471G>A of the CRYGD gene, which resulted in p.Trp157Term, was identified in all three patients. The same mutation was not found in the two normal individuals from the family and 100 healthy controls. The nonsense mutation was predicted to be "disease causing" by Mutation t@sting program.

CONCLUSIONThe nonsense mutation c.471G>A of the CRYGD gene probably underlies the congenital cataract in the pedigree.

Cataract ; etiology ; genetics ; Child ; Codon, Nonsense ; Humans ; Male ; Sequence Analysis, DNA ; gamma-Crystallins ; genetics

Objective To evaluate the efficacy and safety of transurethral laser shovel type vaporresection-enucleation of the prostate (LS-VREP) based on the inter-layer of surgical capsule for the treatment of benign prostatic hyperplasia (BPH),which was less 80 g weight.Methods From September 2013 to August 2016,a retrospective study was performed including 1 369 cases of BPH patients,who were treated by 120-160 W transurethral laser (straight green-light) shovel type vapor-resection-enucleation of the prostate (LS-VREP group,n =1 008) and transurethral resection of the prostate (TURP group,n =361).The preoperative data,including average age,prostate weight,IPSS,QOL,Qmax and PVR was reviewed.There was no significant difference of the above data between the two groups (P ＞ 0.05).Operative time,changes of hemoglobin and serum sodium concentration,postoperative bladder irrigation time,catheter indwelling duration,hospital stay,pre-and 3 months post-operative IPSS,QOL,Q PVR were recorded.In addition,complications were monitored.Results Mean operation time of LS-VREP group was (46.1 ± 18.6) min,while TURP group was (48.2 ± 15.2) min,and there was no difference between the two groups (P ＞ 0.05).Post-operative mean hemoglobin concentration and serum sodium concentration of LS-VREP group decreased (1.6 ± 1.2) g/L and (1.2 ± 0.6) mmol/L respectively,while those of TURP group decreased (5.7 ± 3.6) g/L and (3.2 ± 1.2) mmol/L,and the differences were statistically significant (P ＜ 0.05).Mean post-operative catheter indwelling time,and post-operative hospital stay of LS-VREP group was (42.9 ± 12.7) h and (3.2 ± 0.6) d,while TURP group was (65.7 ± 15.4) h and (5.4 ± 1.2) d,and the differences were statistically significant (P ＜ 0.05).Comparatively IPSS,QOL,Qmax and PVR were all improved significantly in both groups at 3 months after operation (P ＜ 0.05),but no significant difference was found between the two groups (P ＞ 0.05).After three months' follow-up of post-operation,as for the complication rate,including TURS,bleeding requiring reoperation,incontinence,dysuria and erectile dysfunction,LS-VREP group (15/1 008) was less than that of TURP group (30/361,P ＜ 0.05).Conclusions The LS-VREP based on the inter-layer of surgical capsule is safe and effective for the treatment of BPH patients whose prostate weight was less than 80 g.LS-VREP showed less intraoperative bleeding,faster postoperative recovery,and high safety,which is considered a safe,effective and optimized minimally invasive surgery.

Objective To evaluate the safety and efficacy of transurethral frontfiring photoselective vaporesection for the treatment of cystitis glandularis,by comparing with the transurethral bipolar plasmakinetic resection.Methods From January 2014 to July 2016,41 patients with pathologically diagnosed cystitis glandularis in our hospital,were divided into two groups,including 22 cases underwent transurethral frontfiring photoselective vaporesection(the observation group),and the other 19 cases underwent transurethral bipolar plasmakinetic resection(the control group).All patients were regularly treated with postoperative intravesical instillation chemotherapy with pirarubicin.The clinical data of two groups were statistically analyzed to compare the differences of the safety and efficacy.Results All the surgeries were performed successfully.There were no statistical significances in perioperative data,the operation time,the decreased concentration of hemoglobin(Hb)and Na+,operative related complications, indwelling catheter duration and hospitalization duration between the two groups.The first-time cure rate and the effective rate of transurethral frontfiring photoselective vaporesection showed significantly better than those of transurethral bipolar plasmakinetic resection(P<0.05 for each).Conclusion Comparing the traditional transurethral bipolar plasmakinetic resection for the treatment of cystitis glandularis,tansurethral frontfiring photoselective vaporesection with postoperative intravesical instillation chemotherapy with pirarubicin,is a safer,simpler,and more effective method,which could be a new optional method in the conditional hospitals,deserving the worthy of clinical popularization.

Objective: To investigate the early diagnosis and treatment for burn complicated with severe paroxysmal sympathetic hyperactivity (PSH). Methods: Medical records of patients with burn complicated with severe PSH, admitted to our department from April 2016 to March 2019 and meeting the inclusion criteria were analyzed retrospectively. There were 4 males and 1 female, aged 17 months to 39 years, with an average of (21±16) years. During occurrence of PSH, the vital signs of patients were routinely monitored and oxygen were given. Other treatment included central venous catheterization and infusion of electrolyte solution, infusion of plasma according to patients′ condition, use of opioid analgesics and benzodiazepine sedatives, physical cooling and drug cooling, and establishment or maintenance of artificial airway and use of ventilator. Heart rate was controlled below 120 beats per minute in adults and 140 beats per minute in children with comprehensive treatment dominated by analgesia and sedation. Besides, single or multiple vasoactive agents, even in large doses were used to maintain normal blood pressure of patients. The occurrence characteristics, time, and treatment outcome of PSH were analyzed. Results: PSH happened rapidly, with a sharp increase in several minutes to dozens of minutes. Five patients were with symptoms such as high body temperature, shortness of breath, very fast heart rate, normal or elevated systolic blood pressure, hyperhidrosis, and dystonia at the onset. The symptoms occurred simultaneously or successively. According to the Clinical Feature Scale, the above-mentioned 6 indexes achieved the highest score of 3 points except of systolic blood pressure. Four patients showed dilated pupils and impaired consciousness. Among the patients, PSH occurred in the acute exudation stage in 3 patients, in the fluid reabsorption stage in 1 patient, and in the late repair stage in 1 patient. PSH of patients lasted for 3 hours to 12 days. The symptoms of 4 patients were effectively controlled, and 1 patient died of deterioration. No PSH occurred in the cured patients during follow-up of 3 to 14 months. Conclusions Burn complicated with PSH can occur at any time before wound repair and in patients with different injury conditions. The causes of PSH include sudden burn, persistent pain, fright and fear, strange environment, low blood volume, and other adverse stimuli, and PSH is more likely to occur in children with underdeveloped brain function. Intravenous infusion of analgesics sedatives, physical therapy and medication to lower body temperature, stabilizing blood pressure and respiration are effective measures to treat PSH. PSH should be distinguished from the common complications of burns, such as sepsis, cerebral edema, hyperpyretic convulsion, transfusion response, stress disorder, etc.

Objective:To explore the technique and clinical effects of free medial plantar flap on reconstruction of the severe defect of thumb caused by electric burn.Methods:Surgical techniques and clinical effects were explored in reconstruction with free medial plantar flap for treatment of severe electric burns of thumbs. From July 2016 to July 2021, 18 patients suffered from severe electric burns of thumbs were admitted in the Department of Burn, Zhengzhou First People's Hospital. All the wounds were the entrance of electric burns. After thorough debridement, the arteries, nerves, tendons, phalanges and interphalangeal joints were exposed to various degrees. Damaged digital proper palmar arteries were ligated and defected proper palmar digital nerves were marked and further anastomosed with the nerves carried by the flap. Palmaris longus tendon grafts were employed to reconstruct the defects of flexor pollicis longus tendon. Wounds were closed by transfer of free medial plantar flaps, and the flap donor sites were closed by inguinal skin grafts. Survival of the flap was observed 1 week after surgery, and the survival of the skin graft in the foot donor site 12 days after surgery. Outpatient follow-up including observation of the appearance and texture of the flap, evaluation of sensory function, thumb alignment and finger flexion according to the Evaluation Trial Standards of Upper Limb Partial Functional of Hand Surgery of Chinese Medical Association. Evaluate the scar hyperplasia in the foot donor site and the standing and walking functions of the donor foot.Results:All flaps survived,at 1 week after surgery. On the 12th day after surgery, all 16 foot flap survived, and 2 patients had local necrosis, and the necrosis healed completely after dressing change for 10 days, the wound healed completely. Among them, 3 patients without tendon transfer experienced a rupture of the flexor pollicis longus tendon at 2 months after surgery, and underwent another palmaris longus tendon transfer. After the surgery, functional exercise was performed with the palm and flexor fingers. After 6-12 months of follow-up, the blood supply, appearance, and texture of the flap were good and similar to that of the palmar skin of the thumb, with varying degrees of recovery in sensation. The TPD was 6-11 mm, and the thumb was restored to varying degrees. According to the Evaluation Trial Standards of Upper Limb Partial Functional of Hand Surgery of Chinese Medical Association, 13 cases in excellent and 5 cases in good. Mild scar hyperplasia remains in the flap site of donor feet, which does not affect the standing and walking functions of the donor foot.Conclusion:The texture of medial plantar skin is similar to that of palmar skin, with good wear resistance and good sensation. Furthermore, it causes a little damage to the donor site and without obvious complication. The medial plantar flap is ideal for reconstruction of a severe wound caused by electric burn in thumb.